Validation of predicted mRNA splicing mutations using high-throughput transcriptome data (Q30802918)

5 September 2017

Validation of predicted mRNA splicing mutations using high-throughput transcriptome data (English)

1 reference

5 September 2017

Coby Viner

1

0 references

Peter K. Rogan

object named as

Peter K Rogan

series ordinal

4

0 references

author name string

Stephanie N Dorman

series ordinal

2

1 reference

PMCID

3983938

5 September 2017

Ben C Shirley

series ordinal

3

1 reference

5 September 2017

13 January 2014

1 reference

5 September 2017

1 reference

5 September 2017

3

1 reference

5 September 2017

8

1 reference

Creative Commons Attribution 3.0 Unported

5 September 2017

start time

7 April 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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RNA sequencing of cancer reveals novel splicing alterations

20 June 2018

1 reference

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Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences

20 June 2018

1 reference

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Opportunities and methods for studying alternative splicing in cancer with RNA-Seq

20 June 2018

1 reference

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Comprehensive molecular portraits of human breast tumours

20 June 2018

1 reference

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Alternative transcription and alternative splicing in cancer

20 June 2018

1 reference

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Pre-mRNA splicing in disease and therapeutics

20 June 2018

1 reference

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Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

20 June 2018

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20 June 2018

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Transcriptomic landscape of breast cancers through mRNA sequencing.

20 June 2018

1 reference

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MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data

20 June 2018

1 reference

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SomaticSniper: identification of somatic point mutations in whole genome sequencing data

20 June 2018

1 reference

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A probabilistic disease-gene finder for personal genomes.

20 June 2018

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BamTools: a C++ API and toolkit for analyzing and managing BAM files

20 June 2018

1 reference

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Widespread establishment and regulatory impact of Alu exons in human genes

20 June 2018

1 reference

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Analysis and design of RNA sequencing experiments for identifying isoform regulation

20 June 2018

1 reference

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Alternative expression analysis by RNA sequencing

20 June 2018

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 June 2018

1 reference

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A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

20 June 2018

1 reference

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Genome-wide transcription and the implications for genomic organization

20 June 2018

1 reference

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Are splicing mutations the most frequent cause of hereditary disease?

20 June 2018

1 reference

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NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

20 June 2018

1 reference

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Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

20 June 2018

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20 June 2018

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GeneSplicer: a new computational method for splice site prediction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Information analysis of human splice site mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Prediction of mutant mRNA splice isoforms by information theory-based exon definition.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Genome-wide analysis of transcript isoform variation in humans

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983938

Best Practices for Evaluating Mutation Prediction Methods

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24741438

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.12688/F1000RESEARCH.3-8.V2

1 reference

release_nidxnlosnffrjg6rjgltklccdu

5 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nidxnlosnffrjg6rjgltklccdu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

3983938

1 reference

5 September 2017

1 reference

PMCID

3983938